Rare multisystem ciliopathy disorders
Gene: NKX2-5
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Incorrect phenotype for this panelCreated: 23 Jan 2017, 4:42 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliopathies
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Familial non syndromic congenital heart disease
- Skeletal dysplasia
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Progressive cardiac conduction disease
- Intellectual disability
- Congenital hypothyroidism
- Laterality disorders and isomerism
- Rare multisystem ciliopathy disorders
- Dilated and arrhythmogenic cardiomyopathy
- Thoracic dystrophies
- Primary ciliary disorders
- Clefting
- Paediatric or syndromic cardiomyopathy
- Sudden death in young people
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NKX2-5 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NKX2-5 was created by ellenmcdonagh